Canonical Allele Identifier: CA024932
Community Standard Title: NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38506350T>C , CM000681.2:g.38506350T>C GRCh38
NC_000019.9:g.38996990T>C , CM000681.1:g.38996990T>C GRCh37
NC_000019.8:g.43688830T>C NCBI36
NG_008866.1:g.77651T>C , LRG_766:g.77651T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.8589T>C MANE Select NP_000531.2:p.Ser2863=
ENST00000359596.8:c.8589T>C MANE Select ENSP00000352608.2:p.Ser2863=
NM_000540.2:c.8589T>C , LRG_766t1:c.8589T>C NP_000531.2:p.Ser2863=
NM_001042723.1:c.8589T>C NP_001036188.1:p.Ser2863=
NM_001042723.2:c.8589T>C NP_001036188.1:p.Ser2863=
ENST00000355481.8:c.8589T>C ENSP00000347667.3:p.Ser2863=
ENST00000359596.7:c.8589T>C ENSP00000352608.2:p.Ser2863=
ENST00000360985.7:c.8586T>C ENSP00000354254.4:p.Ser2862=
ENST00000594335.5:c.2041T>C
ENST00000599547.6:c.8589T>C ENSP00000471601.2:p.Ser2863=
XM_006723317.1:c.8589T>C XP_006723380.1:p.Ser2863=
XM_006723317.2:c.8589T>C XP_006723380.1:p.Ser2863=
XM_006723319.1:c.8589T>C XP_006723382.1:p.Ser2863=
XM_006723319.2:c.8589T>C XP_006723382.1:p.Ser2863=
XM_011527204.1:c.8586T>C XP_011525506.1:p.Ser2862=
XM_011527205.1:c.8589T>C XP_011525507.1:p.Ser2863=
XM_011527205.2:c.8589T>C XP_011525507.1:p.Ser2863=
XR_001753735.1:n.8672T>C